Guidelines for genetic ancestry inference created through roundtable discussions.
Guidelines for genetic ancestry inference created through roundtable discussions.
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DOI：
10.1016/j.xhgg.2023.100178
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发表时间：
2023-04-13
期刊：
影响因子：
--
通讯作者：
Royal, Charmaine D.
中科院分区：
文献类型：
--
作者：
Wagner, Jennifer K.;Yu, Joon-Ho;Fullwiley, Duana;Moore, CeCe;Wilson, James F.;Bamshad, Michael J.;Royal, Charmaine D.
使用遗传和基因组技术来推断祖先在各种情况下都是司空见惯的，特别是在生物医学研究和直接面向消费者的基因检测中。在2013年和2015年，两次圆桌会议吸引了不同的利益相关者群体，共同制定了学术界和工业界推断遗传祖先的指导方针。本报告分享了利益相关者团体的工作，并提供了对开创性和持续性对话的分析、评论和观点。我们描述了参与过程和利益相关者团体的最终声明和建议的指导方针。该指南侧重于五个关键领域：遗传祖先推断的应用、假设和置信度/实验室和统计方法、术语和种群标识符、对个人和群体的影响以及遗传祖先推断的交流或翻译。我们描述了指南的条款和局限性，并讨论了它们在推进开发和实施推断遗传祖先和报告结果的最佳实践方面的关键作用。这些努力应该为政府监管和自我监管提供信息。有不同利益攸关方参加的两次圆桌会议使学术界和工业界能够制定推断遗传祖先的准则。本报告描述了参与过程和由此产生的指导方针，可以为实践的持续改进提供信息，并协助正在进行的学术、行业和政策讨论。
The use of genetic and genomic technology to infer ancestry is commonplace in a variety of contexts, particularly in biomedical research and for direct-to-consumer genetic testing. In 2013 and 2015, two roundtables engaged a diverse group of stakeholders toward the development of guidelines for inferring genetic ancestry in academia and industry. This report shares the stakeholder groups’ work and provides an analysis of, commentary on, and views from the groundbreaking and sustained dialogue. We describe the engagement processes and the stakeholder groups’ resulting statements and proposed guidelines. The guidelines focus on five key areas: application of genetic ancestry inference, assumptions and confidence/laboratory and statistical methods, terminology and population identifiers, impact on individuals and groups, and communication or translation of genetic ancestry inferences. We delineate the terms and limitations of the guidelines and discuss their critical role in advancing the development and implementation of best practices for inferring genetic ancestry and reporting the results. These efforts should inform both governmental regulation and self-regulation. Two roundtables engaging a diverse group of stakeholders enabled the development of guidelines for inferring genetic ancestry in academia and industry. This report describes the engagement process and the resulting guidelines, which can inform continued improvement of practices and assist ongoing scholarly, industry, and policy discussions.
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